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A 36-wk gestation neonate, delivered via cesarean section due to severe preeclampsia, developed seizures attributed to perinatal asphyxia and was admitted to the NICU. [...]the persistence of nephrocalcinosis underscores the need for close monitoring and further research into its optimal use in neonates. Subcutaneous fat necrosis of the newborn and associated hypercalcemia: a systematic review of the literature.

Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor ( ) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We describe a new case of Donohue syndrome born at 37 weeks’ gestation of unrelated parents and presented with intra-uterine growth retardation, nipple hypertrophy, macropenis, distended abdomen, hirsutism and dysmorphic features. The clinical course showed failure to thrive, and episodes of alternating hypoglycemia and hyperglycemia. Laboratory tests revealed direct hyperbilirubinemia. The diagnosis of Donohue syndrome was established based on the above clinical characteristics and determination of the mutation. He was found to have homozygous nonsense mutation c. 2270 C>T (Arg924X) at exon 14 of the gene. He later developed enterocolitis and died at 3 months old. Prenatal diagnosis was performed for the family via chorionic villous biopsy. We try to explain gastrointestinal dysfunction seen in our patient.

A 15-month-old boy presented with asymptomatic hypoxaemia due to right-to-left venous shunting via a left superior caval vein emptying into the left atrium, in absence of right superior caval vein. The diagnosis, suspected by contrast echocardiography, was confirmed by computed tomography and angiography. The child underwent surgical correction of the systemic anomalous return by tunnelling the left superior caval vein towards the right atrium. An asymptomatic narrowing inside the intra-atrial baffle developed 6 months later.